Author

Stefan Coassin

Innsbruck Medical UniversityORCID 0000-0001-5677-8979Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 4 Research Focus:GWAS / association mapping· 3 Assay:GWAS summary statistics· 3 Research Focus:gene regulatory network inference· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1

Frequent Co-Authors

Florian KronenbergiD· 4 shared Annette PetersiD· 3 shared Claudia LaminaiD· 3 shared Bernhard PaulweberiD· 2 shared Elisabeth Steinhagen-ThiesseniD· 2 shared Gertraud StreiteriD· 2 shared Konstantin StrauchiD· 2 shared Sebastian SchönherriD· 2 shared

Activity by Year

2019-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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4 shared papersGenetics

Florian KronenbergORCID

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5 papers

Recent·Most cited

GenomicsGenome MedicinePeer-reviewedOct 8, 2024

Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex Lipoprotein(a) KIV-2 VNTR

Stephan Amstler, Gertraud Streiter, Cathrin Pfurtscheller…·Stefan Coassin

This paper demonstrates that UMI-ONT-Seq accurately detects SNPs and quantifies VNTR copy numbers in the complex KIV-2 region across multiple ancestries.

15 citations

humanlong-read sequencing

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GeneticsGenome MedicinePeer-reviewedAug 21, 2020

Investigation of an LPA KIV-2 nonsense mutation in 11,000 individuals: the importance of linkage disequilibrium structure in LPA genetics.

Silvia Di Maio, Rebecca Grüneis, Gertraud Streiter…·Stefan Coassin

The paper investigates the LPA KIV-2 nonsense mutation R21X in 11,000 individuals, finding it associated with lower Lp(a) levels and linked to a splice mutation, highlighting the importance of LD structure in LPA genetics.

40 citationstop 4%

humanGWAS summary statistics

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GeneticsPLoS ONEPeer-reviewedApr 28, 2020

A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter

Stefan Coassin, Natascha Hermann‐Kleiter, Margot Haun…·Claudia Lamina

The paper identifies a DNA methylation site in the LPA promoter associated with Lp(a) levels and shows that a SNP at this site influences Lp(a) through direct genetic effect, not methylation.

13 citations

humanDNA methylation

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GeneticsBMC Cardiovascular DisordersPeer-reviewedOct 29, 2019

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

Amand Floriaan Schmidt, Michael Vaclav Holmes, David Preiss…·Albert Hofman D

The paper analyzes genetic variants at the PCSK9 locus to assess their phenotypic effects on lipid levels and disease outcomes, finding concordance with PCSK9 inhibitor trials for myocardial infarction but discordance for type 2 diabetes.

43 citationstop 3%

humanGWAS summary statistics

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GeneticsbioRxivPreprintJan 23, 2019

Cis-epistasis at the LPA locus and risk of coronary artery disease

Lingyao Zeng, Nazanin Mirza‐Schreiber, Claudia Lamina…·Heribert Schunkert

The paper identifies cis-epistasis at the LPA locus involving two SNPs that interact to modulate coronary artery disease risk and related traits.

1 citation

humanGWAS summary statistics

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